S5A (p.Ser5Ala) variant of DRD4 (D(4) dopamine receptor)
S5A (p.Ser5Ala) in DRD4 (D(4) dopamine receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- gnomAD 11-637315-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available